{"id":122055,"date":"2026-01-08T16:14:54","date_gmt":"2026-01-08T07:14:54","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=122055"},"modified":"2026-03-03T13:51:25","modified_gmt":"2026-03-03T04:51:25","slug":"meckel-gruber-syndrome-type-1-mks1","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/meckel-gruber-syndrome-type-1-mks1\/","title":{"rendered":"\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u95a2\u9023\u75be\u60a3\uff08MKS1\u95a2\u9023\uff09"},"content":{"rendered":"\n

\u6982\u8981<\/strong><\/h2>\n\n\n\n

\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u95a2\u9023\u75be\u60a3\uff08Joubert syndrome and related disorders\uff1aJSRD\uff09\u306f\u3001\u5c0f\u8133\u866b\u90e8\u5f62\u6210\u4e0d\u5168\u3092\u4e2d\u5fc3\u3068\u3059\u308b\u4e2d\u67a2\u795e\u7d4c\u5947\u5f62\u3068\u3001\u591a\u81d3\u5668\u969c\u5bb3\u3092\u7279\u5fb4\u3068\u3059\u308b\u7e4a\u6bdb\u75c5\uff08ciliopathy\uff09\u306e\u4e00\u7fa4\u3067\u3059\u3002MKS1\u95a2\u9023\u578b\u306f\u3001\u540c\u3058\u304f\u7e4a\u6bdb\u69cb\u9020\u306e\u5f62\u6210\u306b\u95a2\u4e0e\u3059\u308bMKS1\u86cb\u767d\u306e\u6b20\u640d\u306b\u3088\u3063\u3066\u751f\u3058\u3001\u91cd\u75c7\u578b\u3067\u306fMeckel-Gruber\u75c7\u5019\u7fa41\u578b\u3068\u3057\u3066\u8868\u73fe\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n

MKS1\u86cb\u767d\u306f\u4e00\u6b21\u7e4a\u6bdb\u57fa\u90e8\u306e\u79fb\u884c\u5e2f\u306b\u5c40\u5728\u3057\u3001\u7d30\u80de\u5916\u30b7\u30b0\u30ca\u30eb\u306e\u53d7\u5bb9\u3068\u4f1d\u9054\u306b\u5fc5\u9808\u3067\u3059\u3002\u3053\u306e\u69cb\u9020\u304c\u7834\u7dbb\u3059\u308b\u3068\u3001\u8133\u3001\u814e\u3001\u809d\u3001\u56db\u80a2\u306a\u3069\u591a\u81d3\u5668\u306e\u5f62\u6210\u7570\u5e38\u304c\u751f\u3058\u307e\u3059\u3002\u51fa\u751f\u524d\u304b\u3089\u81f4\u6b7b\u7684\u306a\u91cd\u75c7\u4f8b\u304b\u3089\u3001\u6bd4\u8f03\u7684\u8efd\u75c7\u306e\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u578b\u307e\u3067\u5e83\u3044\u81e8\u5e8a\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3092\u6301\u3061\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u75ab\u5b66<\/strong><\/h2>\n\n\n\n

\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u5168\u4f53\u306e\u6709\u75c5\u7387\u306f\u7d048\u4e07\u301c10\u4e07\u4eba\u306b1\u4eba\u3068\u3055\u308c\u307e\u3059\u3002MKS1\u95a2\u9023\u578b\u306f\u305d\u306e\u4e2d\u306e\u4e00\u90e8\u3092\u5360\u3081\u3001\u7279\u306b\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\u306a\u3069\u7279\u5b9a\u5730\u57df\u3067\u306e\u96c6\u7a4d\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002(PMC)<\/p>\n\n\n\n

\u539f\u56e0<\/strong><\/h2>\n\n\n\n

\u672c\u75be\u60a3\u306fMKS1\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002MKS1\u907a\u4f1d\u5b50\u306f\u30d2\u30c817\u756a\u67d3\u8272\u4f53\uff0817q23\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u7e4a\u6bdb\u79fb\u884c\u5e2f\u86cb\u767d\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002\u3053\u306e\u86cb\u767d\u306f\u4e00\u6b21\u7e4a\u6bdb\u306e\u69cb\u9020\u5b89\u5b9a\u3068\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306b\u4e0d\u53ef\u6b20\u3067\u3042\u308a\u3001\u305d\u306e\u6b20\u640d\u306b\u3088\u308a\u591a\u81d3\u5668\u5947\u5f62\u304c\u751f\u3058\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u907a\u4f1d\u5f62\u5f0f\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3059\u3002(malacards.org)<\/p>\n\n\n\n

\u75c7\u72b6<\/strong><\/h2>\n\n\n\n

\u795e\u7d4c\u7cfb<\/strong><\/h3>\n\n\n\n
    \n
  • \u5c0f\u8133\u866b\u90e8\u5f62\u6210\u4e0d\u5168<\/li>\n\n\n\n
  • \u547c\u5438\u8abf\u7bc0\u969c\u5bb3<\/li>\n\n\n\n
  • \u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/li>\n\n\n\n
  • \u767a\u9054\u9045\u6ede<\/li>\n<\/ul>\n\n\n\n

    \u814e<\/strong><\/h3>\n\n\n\n
      \n
    • \u56a2\u80de\u814e<\/li>\n\n\n\n
    • \u814e\u4e0d\u5168<\/li>\n<\/ul>\n\n\n\n

      \u809d<\/strong><\/h3>\n\n\n\n
        \n
      • \u809d\u7dda\u7dad\u75c7<\/li>\n\n\n\n
      • \u9580\u8108\u5727\u4ea2\u9032<\/li>\n<\/ul>\n\n\n\n

        \u305d\u306e\u4ed6<\/strong><\/h3>\n\n\n\n
          \n
        • \u591a\u6307\u75c7<\/li>\n\n\n\n
        • \u53e3\u5507\u88c2<\/li>\n<\/ul>\n\n\n\n

          \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
            \n
          1. \u8133MRI\u3067\u30e2\u30e9\u30fc\u30ed\u30fc\u30c6\u30b5\u30a4\u30f3<\/li>\n\n\n\n
          2. \u814e\u30fb\u809d\u30a8\u30b3\u30fc\u3067\u56a2\u80de\u30fb\u7dda\u7dad\u5316<\/li>\n\n\n\n
          3. \u907a\u4f1d\u5b50\u8a3a\u65ad\uff08MKS1\u89e3\u6790\uff09(PMC)<\/li>\n<\/ol>\n\n\n\n

            \u6cbb\u7642<\/strong><\/h2>\n\n\n\n
              \n
            • \u5bfe\u75c7\u7642\u6cd5\u4e2d\u5fc3<\/li>\n\n\n\n
            • \u547c\u5438\u7ba1\u7406<\/li>\n\n\n\n
            • \u30ea\u30cf\u30d3\u30ea<\/li>\n\n\n\n
            • \u814e\u30fb\u809d\u5408\u4f75\u75c7\u7ba1\u7406<\/li>\n<\/ul>\n\n\n\n

              \u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n

              \u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4 \u2014 \u907a\u4f1d\u5b50\u75be\u60a3\u89e3\u8aac\u30da\u30fc\u30b8\uff08\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\uff09\u3088\u308a\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)
              Kytt\u00e4l\u00e4 M et al. MKS1 gene mutations in Meckel syndrome. Nat Genet. 2006.(Nature)
              Joubert Syndrome \u2014 GeneReviews, PubMed Central.(PMC)
              Meckel-Gruber Syndrome \u2014 Malacards Rare Disease Database.(malacards.org)<\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-122055","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122055","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122055\/revisions"}],"predecessor-version":[{"id":125264,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122055\/revisions\/125264"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122055"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}